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. 2016 Jan 14;5:e11614. doi: 10.7554/eLife.11614

Figure 6. Genetic and mechanistic dissection of CHD in mouse models of DS.

Figure 6.

(a) Representation of Hsa21 and the conserved region of synteny with the telomeric part of Mmu16 (grey line). Black lines indicate the extent of the duplications in Dp3Tyb and Ts1Rhr strains. Magnifications show the ends of the duplications indicating the 8 genes duplicated in Dp3Tyb but not Ts1Rhr mice. (b) Hsa21 and orthologous portion of Mmu16 (grey line), showing extent of duplication in Dp3Tyb (red line, this study) and Dp(16)4Yey (black line) (Liu et al., 2013). Also shown are the extent of partial trisomies of two individuals with DS who had a VSD (PM) or AVSD (BA) (blue lines) (Korbel et al., 2009). (c) Diagrams show a normal heart (right) and 3 types of AVSD depending on the relationship of the AV valves to the septal components and the presence/absence of the DMP (red). Defects in the DMP are seen in AVSD with atrial shunting (ostium primum) or in complete AVSD with both atrial and ventricular shunts. Dp1Tyb mice have AVSD with a ventricular shunt and the DMP is present (red boxes). AS, atrial septum; DMP, dorsal mesenchymal protrusion; LA, left atrium; LV, left ventricle; MV, mitral valve; RA, right atrium; RV, right ventricle; TV, tricuspid valve; VS, ventricular septum.